Advances in Sturge-Weber syndrome

Purpose of review: Recent neuroimaging, clinical and molecular neuropathologic studies have provided new insights into the neurologic aspects of Sturge-Weber syndrome and are summarized here. Recent findings: Molecular studies suggest that abnormal brain blood vessel vasoactive and extracellular matrix molecule expression, as well as aberrant brain vascular innervation, contribute to the vascular malformation and its consequences. New magnetic resonance sequences may be useful for the early diagnosis of Sturge-Weber syndrome and perfusion magnetic resonance imaging, single photon emission computed tomography imaging, and positron emission tomography imaging studies are suggesting that decreased brain blood flow combined with altered hemodynamics during prolonged seizures may contribute to the neurologic declines in Sturge-Weber syndrome. Summary: Recent advances in our understanding of the neurologic issues offer promise for preventing brain injury in Sturge-Weber syndrome. More research is needed to translate advances in molecular research and neuroimaging advances into new treatment strategies for the disease.